Property Summary

NCBI Gene PubMed Count 16
Grant Count 183
R01 Count 98
Funding $38,455,238.58
PubMed Score 117.58
PubTator Score 17.20

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
astrocytic glioma -1.300 0.037
osteosarcoma -1.904 0.000
cystic fibrosis 1.067 0.000
medulloblastoma, large-cell -1.100 0.001
spina bifida -1.248 0.036
ovarian cancer 1.700 0.000

Synonym

Accession Q7Z3V4 A5D8Z3 Q05BX9 Q659F7 Q7Z7Q1 Q9BXZ4
Symbols KOS
BPIDS

Gene

PANTHER Protein Class (2)

Gene RIF (7)

PMID Text
25691420 UBE3B encodes a widely expressed protein ubiquitin ligase E3B, which, when mutated in both alleles, causes Kaufman oculocerebrofacial syndrome.
24615390 UBE3B mutations cause a clinically recognizable and possibly underdiagnosed syndrome named the Kaufman oculocerebrofacial syndrome
23687348 data provide evidence that Kaufman oculocerebrofacial syndrome is caused by UBE3B loss of function, and further demonstrate the impact of misregulation of protein ubiquitination on development and growth.
23200864 Our data reveal the pleiotropic effects of UBE3B deficiency and reinforce the physiological importance of ubiquitination in neuronal development and function in mammals.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
17672918 the apparent occurrence of an unusual TG 3' splice site in intron 25 is discussed
12837265 UBE3B is a novel E3 ligase, with a HECT-domain which constitutes the active site for ubiquitin transfer

AA Sequence

MFTLSQTSRAWFIDRARQAREERLVQKERERAAVVIQAHVRSFLCRSRLQRDIRREIDDFFKADDPESTK      1 - 70
RSALCIFKIARKLLFLFRIKEDNERFEKLCRSILSSMDAENEPKVWYVSLACSKDLTLLWIQQIKNILWY     71 - 140
CCDFLKQLKPEILQDSRLITLYLTMLVTFTDTSTWKILRGKGESLRPAMNHICANIMGHLNQHGFYSVLQ    141 - 210
ILLTRGLARPRPCLSKGTLTAAFSLALRPVIAAQFSDNLIRPFLIHIMSVPALVTHLSTVTPERLTVLES    211 - 280
HDMLRKFIIFLRDQDRCRDVCESLEGCHTLCLMGNLLHLGSLSPRVLEEETDGFVSLLTQTLCYCRKYVS    281 - 350
QKKSNLTHWHPVLGWFSQSVDYGLNESMHLITKQLQFLWGVPLIRIFFCDILSKKLLESQEPAHAQPASP    351 - 420
QNVLPVKSLLKRAFQKSASVRNILRPVGGKRVDSAEVQKVCNICVLYQTSLTTLTQIRLQILTGLTYLDD    421 - 490
LLPKLWAFICELGPHGGLKLFLECLNNDTEESKQLLAMLMLFCDCSRHLITILDDIEVYEEQISFKLEEL    491 - 560
VTISSFLNSFVFKMIWDGIVENAKGETLELFQSVHGWLMVLYERDCRRRFTPEDHWLRKDLKPSVLFQEL    561 - 630
DRDRKRAQLILQYIPHVIPHKNRVLLFRTMVTKEKEKLGLVETSSASPHVTHITIRRSRMLEDGYEQLRQ    631 - 700
LSQHAMKGVIRVKFVNDLGVDEAGIDQDGVFKEFLEEIIKRVFDPALNLFKTTSGDERLYPSPTSYIHEN    701 - 770
YLQLFEFVGKMLGKAVYEGIVVDVPFASFFLSQLLGHHHSVFYSSVDELPSLDSEFYKNLTSIKRYDGDI    771 - 840
TDLGLTLSYDEDVMGQLVCHELIPGGKTIPVTNENKISYIHLMAHFRMHTQIKNQTAALISGFRSIIKPE    841 - 910
WIRMFSTPELQRLISGDNAEIDLEDLKKHTVYYGGFHGSHRVIIWLWDILASDFTPDERAMFLKFVTSCS    911 - 980
RPPLLGFAYLKPPFSIRCVEVSDDQDTGDTLGSVLRGFFTIRKREPGGRLPTSSTCFNLLKLPNYSKKSV    981 - 1050
LREKLRYAISMNTGFELS                                                       1051 - 1068
//

Text Mined References (20)

PMID Year Title
25691420 2015 Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.
24615390 2014 Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.
23687348 2013 Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.
23200864 2012 Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
20864672 2010 Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17672918 2007 Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.
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